| 1 | CRSCNS, FGF3
|
| A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) causes non-syndromic craniosynostosis.
|
| Tsai FJ, Wu JY, Lee CC, Tsa CH.
|
| Acta Paediatr 89(6):672-4. 2000
|
| 2 | ACS1, ACS3, CRS10, CRS11, DEL7P21, CRS5A, CRS5B, CRS6, CRS7B, CRS8, BSCGS1, CRSCNS, FGFR1, FGFR2, FGFR3, MSX2, SADDAN, TWIST1
|
| Craniosynostosis Syndromes: From Genes to Premature Fusion of Skull Bones.
|
| Hehr U, et al.
|
| Mol Genet Metab 68(2):139-151. No abstract available 1999
|
| 3 | CRS10, CRSCNS, FGFR3
|
| Syndrome of coronal craniosynostosis with brachydactyly and carpal/tarsal coalition due to Pro250Arg mutation in FGFR3 gene.
|
| Graham JM, et al.
|
| Am J Med Genet 77 : 322-329. 1998
|
| 4 | CRS10, CRSCNS, FGFR3
|
| A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome.
|
| Muenke M, et al.
|
| Am J Hum Genet 60 : 555-564. 1997
|
| 5 | CRSCNS, FGFR3
|
| Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal craniosynostosis.
|
| Moloney DM, et al.
|
| Lancet 349 : 1059-1062. 1997
|
| 6 | CRSCNS, FGFR3, CRS10
|
| Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis.
|
| Reardon W, Wilkes D, Rutland P, Pulleyn LJ, Malcolm S, Dean JC, Evans RD, Jones BM, Hayward R, Hall CM, Nevin NC, Baraister M, Winter RM.
|
| J Med Genet 34(8):632-6. 1997
|
| 7 | CRSCNS, FGFR3, CRS10
|
| Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family.
|
| Golla A, Lichmer P, von Gernet S, Winterpacht A, Fairley J, Murken J, Schuffenhauer S.
|
| J Med Genet 34(8):683-4. 1997
|
| 8 | CRSCNS, FGFR3
|
| Identification of the first genetic cause for isolated anterior synostotic plagiocephaly : a unique mutation in the fibroblast growth factor receptor 3. (abstr)
|
| Gripp KW, et al.
|
| Am J Hum Genet 61 : A49. 1997
|